Τρίτη 17 Ιανουαρίου 2017

Genomic analysis and clinical management of adolescent cutaneous melanoma

Summary

Melanoma in young children is rare, however its incidence in adolescents and young adults is rising. We describe the clinical course of a 15-year-old female diagnosed with AJCC stage IB non-ulcerated primary melanoma, who died from metastatic disease four years after diagnosis despite three lines of modern systemic therapy. We also present the complete genomic profile of her tumour and compare this to a further series of 13 adolescent melanomas, and 275 adult cutaneous melanomas. A somatic BRAFV600E mutation and a high mutational load equivalent to that found in adult melanoma, and composed primarily of C>T mutations was observed. A germline genomic analysis alongside a series of 23 children and adolescents with melanoma revealed no mutations in known germline melanoma-predisposition genes. Adolescent melanomas appear to have genomes that are as complex as those arising in adulthood, and their clinical course can, as with adults, be unpredictable.

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